Recombinant Human Membrane frizzled-related protein (MFRP), partial

1. We report the MFRP-related ocular phenotype in three siblings with glycogen storage disease type 1b. Molecular genetic studies identified novel mutations in the MFRP and SLC37A4 genes. PMID: 28511025
2. The current study expands our knowledge of the mutation spectrum of MFRP and its associated phenotypes. To our knowledge, this is the first report of MFRP mutations in a Chinese cohort. PMID: 26583794
3. Among five single nucleotide polymorphism(SNP)s tested, only MFRP rs3814762 and heat shock protein (HSP)70 rs1043618 show nominal association with primary angle closure. PMID: 23378726
4. nanophthalmos and high hyperopia but without electrophysiological evidence of retinal dystrophy has also been associated with MFRP mutations. PMID: 23143909
5. Corneal diameter decreases with decreasing axial length, suggesting posterior microphthalmos and nanophthalmos represent a spectrum of high hyperopia rather than distinct phenotypes. In the Saudi population PRSS56 mutations are the major cause. PMID: 23127749
6. Homozygous autosomal recessive retinitis pigmentosa-causing mutations have been found in three Indian families. These included a single base deletion in MFRP. PMID: 22605927
7. MFRP gene shows tendency to be associated with primary angle closure glaucoma in both the Australian and Nepalese cohorts. PMID: 22933837
8. Posterior microphthalmos can be caused by nonsense compound heterozygous mutations in the MFRP gene. PMID: 22565643
9. In both previous reports of PMPRS, mutations in membrane type frizzled-related protein (MFRP) gene (located at 11q23) was demonstrated to be present PMID: 21416382
10. Three novel MFRP mutations that expand the phenotypic data available on patients with MFRP mutations, are reported. PMID: 20361016
11. Extreme hyperopia (Nanophthalmos) is the result of null mutations in MFRP. PMID: 15976030
12. Mutation of the membrane-type frizzled-related protein gene is associated with inherited retinal degenerations PMID: 16352475
13. Defects in MFRP could be responsible for syndromic forms of microphthalmos/retinal degeneration. This gene is necessary for photoreceptor maintenance. PMID: 17167404
14. These results indicate that the MFRP gene may not play a role in regulating ocular axial length in these phenotypes. PMID: 18334955
15. Patients without MFRP gene function exhibit no correction of refractive error during childhood, which suggests that this gene is essential for emmetropization, a complex process by which vision regulates axial growth of the eye. PMID: 18363166
16. The novel frameshift mutation identified in the family described here validates MFRP as the gene responsible for this particular disease, which characteristically involves structures located at the posterior segment of the eye. PMID: 18554571
17. These results do not support a significant role for CHX10 or MFRP mutations in primary angle closure glaucoma. PMID: 18648522
18. Significant associations between angle-closure glaucoma and sequence variants in the MFRP gene, was analyzed. PMID: 18781223
19. MFRP is less likely to play a major role in physiologic high hyperopia. PMID: 19169412
20. This is the first demonstration of compound heterozygosity for MFRP mutations. PMID: 19753314
21. Describes the role of CTRP5 in disease, in addition to the bicistronic nature of CTRP5 and MFRP, which is confirmed by RT-PCR. PMID: 12944416

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HGNC: 18121

OMIM: 606227

KEGG: hsa:83552

STRING: 9606.ENSP00000456533

UniGene: Hs.632102